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Ear, Nose, & Throat Journal Jun 2023Extirpation of multiple head and neck paragangliomas carries challenge due to close anatomic relationships with critical neurovascular bundles.
INTRODUCTION
Extirpation of multiple head and neck paragangliomas carries challenge due to close anatomic relationships with critical neurovascular bundles.
OBJECTIVES
This study aims to assess whether the application of 3-D models can assist with surgical planning and treatment of these paragangliomas, decrease surgically related morbidity and mortality.
METHODS
Fourteen patients undergoing surgical resection of multiple head and neck paragangliomas were enrolled in this study. A preoperative 3-D model was created based on radiologic data, and relevant critical anatomic relationships were preoperatively assessed and intraoperatively validated.
RESULTS
All 14 patients presented with multiple head and neck paragangliomas, including bilateral carotid body tumors (CBT, n = 9), concurrent CBT with glomus jugulare tumors (GJT, n = 4), and multiple vagal paragangliomas (n = 1). Ten patients underwent genomic analysis and all harbored succinate dehydrogenase complex subunit D (SDHD) mutations. Under guidance of the 3-D model, the internal carotid artery (ICA) was circumferentially encased by tumor on 5 of the operated sides, in 4 (80%) of which the tumor was successfully dissected out from the ICA, whereas ICA reconstruction was required on one side (20%). Following removal of CBT, anterior rerouting of the facial nerve was avoided in 3 (75%) of 4 patients during the extirpation of GJT with assistance of a 3-D model. Two patients developed permanent postoperative vocal cord paralysis. There was no vessel rupture or mortality in this study cohort.
CONCLUSION
The 3-D model is beneficial for establishment of a preoperative strategy, as well as planning and guiding the intraoperative procedure for resection of multiple head and neck paragangliomas.
Topics: Humans; Head and Neck Neoplasms; Paraganglioma, Extra-Adrenal; Paraganglioma; Carotid Body Tumor; Glomus Jugulare Tumor
PubMed: 33829883
DOI: 10.1177/01455613211009441 -
Endocrine-related Cancer Mar 2022Head and neck paragangliomas (HNPGLs) are tumors of parasympathetic origin that occur at variable locations and are often secondary to germline mutations in succinate...
Head and neck paragangliomas (HNPGLs) are tumors of parasympathetic origin that occur at variable locations and are often secondary to germline mutations in succinate dehydrogenase (SDH) subunit genes. Occasionally, these tumors produce catecholamines. Here, we assessed whether different locations of HNPGLs relate to the presence of SDHx mutations, catecholamine production and other presentations. In this multicenter study, we collected clinical and biochemical data from 244 patients with HNPGLs and 71 patients without HNPGLs. We clarified that jugulotympanic HNPGLs have distinct features. In particular, 88% of jugulotympanic HNPGLs arose in women, among whom only 24% occurred due to SDHx mutations compared to 55% in men. Jugulotympanic HNPGLs were also rarely bilateral, were of a smaller size and were less often metastatic compared to carotid body and vagal HNPGLs. Furthermore, we showed that plasma concentrations of methoxytyramine (MTY) were higher (P < 0.0001) in patients with HNPGL than without HNPGL, whereas plasma normetanephrine did not differ. Only 3.7% of patients showed strong increases in plasma normetanephrine. Plasma MTY was positively related to tumor size but did not relate to the presence of SDHx mutations or tumor location. Our findings confirm that increases in plasma MTY represent the main catecholamine-related biochemical feature of patients with HNPGLs. We expect that more sensitive analytical methods will make biochemical testing of HNPGLs more practical in the future and enable more than the current 30% of patients to be identified with dopamine-producing HNPGLs. The sex-dependent differences in the development of HNPGLs may have relevance to the diagnosis, management and outcomes of these tumors.
Topics: Catecholamines; Dopamine; Female; Head and Neck Neoplasms; Humans; Male; Mutation; Normetanephrine; Paraganglioma; Succinate Dehydrogenase
PubMed: 35171114
DOI: 10.1530/ERC-21-0359 -
Diagnostics (Basel, Switzerland) Dec 2021Head and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors, comprising only 3% of all head and neck tumors. Early diagnosis forms an integral part of the...
Head and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors, comprising only 3% of all head and neck tumors. Early diagnosis forms an integral part of the management of these tumors. The two main aims of any treatment approach are long-term tumor control and minimal cranial nerve morbidity. The scope of this article is to present our case series of HNPGLs to stress most important clinical aspects of their presentation as well as critical issues of their complex management. Thirty patients with suspected HNPGLs were referred to our otorhinolaryngology clinic for surgical consultation between 2016-2020. We assessed the demographical pattern, clinicoradiological correlation, as well as type and outcome of treatment. A total of 42 non-secretory tumors were diagnosed-16.7% were incidental findings and 97% patients had benign tumors. Six patients had multiple tumors. Jugular paragangliomas were the most commonly treated tumors. Tumor control was achieved in nearly 96% of operated patients with minimal cranial nerve morbidity. Surgery is curative in most cases and should be considered as frontline treatment modality in experienced hands for younger patients, hereditary and secretory tumors. Cranial nerve dysfunction associated with tumor encasement is a negative prognostic factor for both surgery and radiotherapy. Multifocal tumors and metastasis are difficult to treat, even with early detection using genetic analysis. Detecting malignancy in HNPGLs is challenging due to the lack of histomorphological criteria; therefore, limited lymph node dissection should be considered, even in the absence of clinical and radiological signs of metastasis in carotid body, vagal, and jugular paragangliomas.
PubMed: 35054195
DOI: 10.3390/diagnostics12010028 -
Cancer Dec 2014Paragangliomas of the head and neck are rare, slow-growing, generally benign tumors of neuroendocrine cells associated with the peripheral nervous system that commonly...
BACKGROUND
Paragangliomas of the head and neck are rare, slow-growing, generally benign tumors of neuroendocrine cells associated with the peripheral nervous system that commonly involve the carotid body, jugular bulb, vagal ganglia, and temporal bone. Treatment options include surgery, radiotherapy (RT), stereotactic radiosurgery (SRS), and observation. This article briefly reviews our 45-year institutional experience treating this neoplasm with RT.
METHODS
From January 1968 through March 2011, 131 patients with 156 benign paragangliomas of the temporal bone, carotid body, jugular bulb, or glomus vagale were treated with RT at a median dose of 45 Gy in 25 fractions. The mean and median follow-up times were 11.5 years and 8.7 years, respectively.
RESULTS
Five tumors (3.2%) recurred locally after RT, all within 10 years of treatment. The overall local control rates at 5 and 10 years were 99% and 96%, respectively. The cause-specific survival rates at 5 and 10 years were 98% and 97%, respectively. The distant-metastasis free survival rates at 5 and 10 years were 99% and 99%, respectively. The overall survival rates at 5 and 10 years were 91% and 72%, respectively. There were no severe complications.
CONCLUSION
RT for benign head and neck paragangliomas is a safe and efficacious treatment associated with minimal morbidity. Surgery is reserved for patients in good health whose risk of associated morbidity is low. SRS may be suitable for patients with skull base tumors <3 cm where RT is logistically unsuitable. Observation is a reasonable option for asymptomatic patients with a limited life expectancy.
Topics: Adult; Aged; Aged, 80 and over; Aortic Bodies; Carotid Body Tumor; Cohort Studies; Disease-Free Survival; Female; Glomus Jugulare Tumor; Head and Neck Neoplasms; Humans; Male; Middle Aged; Paraganglioma, Extra-Adrenal; Radiotherapy, Intensity-Modulated; Retrospective Studies; Temporal Bone; Treatment Outcome; Young Adult
PubMed: 25060724
DOI: 10.1002/cncr.28923 -
OTO Open 2024High-altitude natives have a high incidence of parangangliomas (PGL) of the head and neck, especially the carotid body tumor. The aim of this study is to describe the...
OBJECTIVES
High-altitude natives have a high incidence of parangangliomas (PGL) of the head and neck, especially the carotid body tumor. The aim of this study is to describe the clinical presentation, pattern, altitude of residence, distribution, management, and follow-up of head and neck paragangliomas (HNPGL) in our sub-Himalayan population.
STUDY DESIGN
Retrospective cohort study.
SETTING
Academic tertiary care hospital.
METHODS
Hospital records of 20 patients of HNPGL diagnosed from December 2017 to December 2021 were retrieved for analysis.
RESULTS
Twenty patients with 23 HNPGL, with a mean age of 41.74 years were managed in our institute. The female-to-male ratio was 2.3: 1 and the mean follow-up was 29.95 months. Nine had carotid body (CBPGL), 7 had tympanic (TPGL), 2 had jugular (JPGL), and 2 had vagal paragangliomas (VPGL). Multiple PGL were seen in 4 patients (20%). Majority of cases (all CBPGL and 57.14% of TPGL) were residents of the high altitude, and the rest were from the low altitude. Fifteen patients (8 CBPGL, 7 TPGL) were operated. There were no major complications except in a patient with large carotid body tumor required anastomosis of carotid artery. Five patients received stereotactic radiotherapy, and 1 malignant PGL received chemoradiotherapy.
CONCLUSION
In this study, JPGL and VPGL are common at low altitudes, whereas carotid body and tympanic PGL were the most common tumor at high altitudes. Being a retrospective and study small sample size, a definite conclusion is not established, however, a genetic analysis and inclusion of a wider population in a future prospective study may establish the hypothesis.
PubMed: 38357702
DOI: 10.1002/oto2.112 -
BMC Medical Genomics Sep 2020Vagal paragangliomas (VPGLs) belong to a group of rare head and neck neuroendocrine tumors. VPGLs arise from the vagus nerve and are less common than carotid...
BACKGROUND
Vagal paragangliomas (VPGLs) belong to a group of rare head and neck neuroendocrine tumors. VPGLs arise from the vagus nerve and are less common than carotid paragangliomas. Both diagnostics and therapy of the tumors raise significant challenges. Besides, the genetic and molecular mechanisms behind VPGL pathogenesis are poorly understood.
METHODS
The collection of VPGLs obtained from 8 patients of Russian population was used in the study. Exome library preparation and high-throughput sequencing of VPGLs were performed using an Illumina technology.
RESULTS
Based on exome analysis, we identified pathogenic/likely pathogenic variants of the SDHx genes, frequently mutated in paragangliomas/pheochromocytomas. SDHB variants were found in three patients, whereas SDHD was mutated in two cases. Moreover, likely pathogenic missense variants were also detected in SDHAF3 and SDHAF4 genes encoding for assembly factors for the succinate dehydrogenase (SDH) complex. In a patient, we found a novel variant of the IDH2 gene that was predicted as pathogenic by a series of algorithms used (such as SIFT, PolyPhen2, FATHMM, MutationTaster, and LRT). Additionally, pathogenic/likely pathogenic variants were determined for several genes, including novel genes and some genes previously reported as associated with different types of tumors.
CONCLUSIONS
Results indicate a high heterogeneity among VPGLs, however, it seems that driver events in most cases are associated with mutations in the SDHx genes and SDH assembly factor-coding genes that lead to disruptions in the SDH complex.
Topics: Adult; Aged; Cranial Nerve Neoplasms; DNA Mutational Analysis; Female; High-Throughput Nucleotide Sequencing; Humans; Middle Aged; Mutation; Paraganglioma; Succinate Dehydrogenase; Vagus Nerve Diseases
PubMed: 32948195
DOI: 10.1186/s12920-020-00763-4 -
Ear, Nose, & Throat Journal Aug 2014Paragangliomas are uncommon tumors that arise from the parasympathetic neuroectodermal ganglionic cells and have been described in numerous anatomic locations, most...
Paragangliomas are uncommon tumors that arise from the parasympathetic neuroectodermal ganglionic cells and have been described in numerous anatomic locations, most commonly in the abdomen. Head and neck paragangliomas are classified into carotid body (most common), vagal, and jugulotympanic types. Computed tomography is the initial imaging modality of choice for the preoperative assessment of the extent of paragangliomas. Magnetic resonance imaging and selective angiography provide more detail of the surrounding tissues and vasculature. Surgical resection is the treatment of choice.
Topics: Female; Head and Neck Neoplasms; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Paraganglioma; Tomography, X-Ray Computed
PubMed: 25181670
DOI: 10.1177/014556131409300822 -
Vascular Specialist International Jun 2019Vagal paragangliomas (VPGLs) represent <5% of all head and neck paragangliomas (PGLs) and show a 17% to 20% risk of malignancy. We present a rare case of a 50-year-old...
Vagal paragangliomas (VPGLs) represent <5% of all head and neck paragangliomas (PGLs) and show a 17% to 20% risk of malignancy. We present a rare case of a 50-year-old gender with a left VPGL in her neck. To date, approximately 200 cases have been reported. The tumor showed web-like adhesions and arterial supply from the external carotid artery. We performed en bloc resection including a part of the vagus nerve. The superior laryngeal nerve was preserved with the "human communicating nerve" which maintains neural communication in >70% of humans, providing motor fibers to the larynx. The patient recovered uneventfully and was discharged on the 3rd postoperative day. These tumors are therapeutically challenging owing to their proximity to vital neck and skull base structures. Early detection decreases surgical morbidity and mortality. Preservation of viable neural tissue is important in advanced disease.
PubMed: 31297361
DOI: 10.5758/vsi.2019.35.2.105 -
Cureus Mar 2024Paragangliomas (PGLs) are tumors that are rarely malignant; the majority of them are benign. Similar to pheochromocytoma, they develop from the autonomic nerve system....
Paragangliomas (PGLs) are tumors that are rarely malignant; the majority of them are benign. Similar to pheochromocytoma, they develop from the autonomic nerve system. This system originates from neural crest cells and can undergo neoplastic transformation. PGLs can arise either inside or outside the adrenal glands. Head and neck PGLs are very scarce. The primary locations where this tumor commonly originates within this region are the carotid body, jugular bulb, and vagal body. Hence, in our case report, we attempt to highlight the uncommon presentation of this disease in a 46-year-old female, who initially presented with hypertension and persistent dysphonia. The patient underwent successful external radiotherapy. This case report aims to raise awareness of the characteristics of these rare malignancies.
PubMed: 38586626
DOI: 10.7759/cureus.55720 -
Journal of Neurological Surgery. Part... Feb 2019To improve our understanding of the natural course of head and neck paragangliomas (HNPGL) and ultimately differentiate between cases that benefit from early...
To improve our understanding of the natural course of head and neck paragangliomas (HNPGL) and ultimately differentiate between cases that benefit from early treatment and those that are best left untreated, we studied the growth dynamics of 77 HNPGL managed with primary observation. Using digitally available magnetic resonance images, tumor volume was estimated at three time points. Subsequently, nonlinear least squares regression was used to fit seven mathematical models to the observed growth data. Goodness of fit was assessed with the coefficient of determination ( ) and root-mean-squared error. The models were compared with Kruskal-Wallis one-way analysis of variance and subsequent post-hoc tests. In addition, the credibility of predictions (age at onset of neoplastic growth and estimated volume at age 90) was evaluated. Equations generating sigmoidal-shaped growth curves (Gompertz, logistic, Spratt and Bertalanffy) provided a good fit (median : 0.996-1.00) and better described the observed data compared with the linear, exponential, and Mendelsohn equations ( < 0.001). Although there was no statistically significant difference between the sigmoidal-shaped growth curves regarding the goodness of fit, a realistic age at onset and estimated volume at age 90 were most often predicted by the Bertalanffy model. Growth of HNPGL is best described by decelerating tumor growth laws, with a preference for the Bertalanffy model. To the best of our knowledge, this is the first time that this often-neglected model has been successfully fitted to clinically obtained growth data.
PubMed: 30733904
DOI: 10.1055/s-0038-1667148